Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. IVA is a rare autosomal recessive metabolic disorder that affects 1 in 250,000 people in the United States. People with isovaleric acidemia have inadequate levels of an enzyme that helps break down leucine. In severe cases, symptoms of isovaleric acidemia become apparent within a few days after birth. Initial symptoms include:
poor feeding
vomiting
seizures
lack of energy
Symptoms sometimes progress to more serious medical problems including:
seizures
coma
possibly death.
Treatment:
Most of patients today with IVA today are diagnosed pre-symptomatically through newborn screening by use of MS/MS which shows elevations of the marker metabolite C5 acylcarnitine in dried blood spots. Isovalerylcarnitine in plasma and isovalerylglycine in urine are markers of this disorder, and are elevated regardless of a patient’s metabolic condition. There are three aspects of therapy of IVA: 1) prevention of metabolic crisis; 2) dietary restriction of protein; 3) medication with carnitine(with or without glycine).
Molecular Basis
As previously mention in the introduction, inadequate levels of an enzyme that help break down a particular amino acid called leucine is the direct cause of IVA. Normally the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. IVA occurs when an enzyme called "isovaleryl-CoA dehydrogenase" is either missing or doesn't work. This enzyme is needed to break down "isovaleryl-CoA."
What is Isovaleric acidemia?
Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. IVA is a rare autosomal recessive metabolic disorder that affects 1 in 250,000 people in the United States. People with isovaleric acidemia have inadequate levels of an enzyme that helps break down leucine. In severe cases, symptoms of isovaleric acidemia become apparent within a few days after birth. Initial symptoms include:
- poor feeding
- vomiting
- seizures
- lack of energy
Symptoms sometimes progress to more serious medical problems including:- seizures
- coma
- possibly death.
Treatment:Most of patients today with IVA today are diagnosed pre-symptomatically through newborn screening by use of MS/MS which shows elevations of the marker metabolite C5 acylcarnitine in dried blood spots. Isovalerylcarnitine in plasma and isovalerylglycine in urine are markers of this disorder, and are elevated regardless of a patient’s metabolic condition. There are three aspects of therapy of IVA: 1) prevention of metabolic crisis; 2) dietary restriction of protein; 3) medication with carnitine(with or without glycine).
Molecular Basis
As previously mention in the introduction, inadequate levels of an enzyme that help break down a particular amino acid called leucine is the direct cause of IVA. Normally the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. IVA occurs when an enzyme called "isovaleryl-CoA dehydrogenase" is either missing or doesn't work. This enzyme is needed to break down "isovaleryl-CoA."
Works Cited
__http://ghr.nlm.nih.gov/condition/isovaleric-acidemia#definition__
__http://www.oaanews.org/IVATreatment.htm__